LIVER HISTOLOGY IN THE ARTHROGRYPOSIS MULTIPLEX CONGENITA, RENAL DYSFUNCTION, AND CHOLESTASIS (ARC) SYNDROME - REPORT OF 3 NEW CASES AND REVIEW

被引：44

作者：

HORSLEN, SP ^{[1
]}

QUARRELL, OWJ ^{[1
]}

TANNER, MS ^{[1
]}

机构：

[1] DEPT MED GENET,SHEFFIELD,S YORKSHIRE,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1994年 / 31卷 / 01期

关键词：

D O I：

10.1136/jmg.31.1.62

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report three cases from two unrelated families of infants with arthrogryposis multiplex congenita, cholestatic jaundice, and renal Fanconi's syndrome. In both families the parents were consanguineous. All three children died by 7 months of age. This association was first reported in 1973 by Lutz-Richner and Landolt and again in another family by Nezelof et al in 1979. However, because of differing liver histology the two sibships were considered to have two separate conditions. Based on the histological findings in one of our cases we propose that all cases described so far represent variation within a single syndrome.

引用

页码：62 / 64

页数：3

共 5 条

[1]

DIROCCO M, 1992, AM J MED GENET, V37, P237

[2]

LUTZRICHNER AR, 1973, HELV PAEDIATR ACTA, V28, P1

[3]

MIKATI MA, 1984, HELV PAEDIATR ACTA, V39, P463

[4] LETHAL FAMILIAL SYNDROME ASSOCIATING ARTHROGRYPOSIS MULTIPLEX CONGENITA, RENAL DYSFUNCTION, AND A CHOLESTATIC AND PIGMENTARY LIVER-DISEASE [J].